Oligosaccharide Urine Analysis

Test Information

The urine oligosaccharide analysis is a semi-quantitative test useful in screening for oligosacharidosis lysosomal storage disorders.

Turnaround Time

3 weeks

CPT Code(s)

84377

Cost

$250

Clinical Information

Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.

Indications

This urine analysis is a good first tier screening test when a storage disorder is expected. Additional testing, such as enzyme analysis or molecular testing may be needed to confirm a diagnosis.

Methodology

Oligosaccharides are analyzed using liquid chromatography tandem mass spectrometry (LC-MS/MS). This new methodology improves the sensitivity and specificity of the test leading to fewer false positives.

Specimen Requirements

Urine (3 ml minimum)

Transport Instructions

Urine should be sent frozen on dry ice by courier or overnight delivery. Specimens may be brought by courier at ambient temperature if it can be delivered on the day of collection.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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